Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs457717
rs457717
1 5 76625147 intron variant A/G snv 0.65 0.810 1.000 2 2010 2016
dbSNP: rs113288603
rs113288603
1 19 40856388 intron variant C/T snv 8.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs11928865
rs11928865
2 1.000 0.120 3 7114015 intron variant T/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs2839580
rs2839580
1 21 42736981 intron variant T/A;G snv 0.44 0.700 1.000 1 2009 2009
dbSNP: rs6132107
rs6132107
1 20 18726094 intron variant A/G snv 0.14 0.700 1.000 1 2009 2009
dbSNP: rs7720606
rs7720606
2 1.000 0.080 5 127216040 intron variant A/G snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs1554360816
rs1554360816
2 1.000 0.120 7 107701069 intron variant TAAGTAACTTGACATTT/- delins 0.700 0
dbSNP: rs74315319
rs74315319
2 1.000 0.120 1 34785300 stop gained C/T snv 8.8E-05 3.5E-05 0.020 1.000 2 2005 2017
dbSNP: rs104894396
rs104894396
28 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.710 1.000 1 2019 2019
dbSNP: rs104894407
rs104894407
3 0.925 0.120 13 20189450 stop gained C/G;T snv 2.8E-05 0.710 1.000 1 2001 2001
dbSNP: rs1057519468
rs1057519468
6 0.925 0.160 15 72345518 stop gained C/T snv 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs111033267
rs111033267
5 0.851 0.200 3 150972520 stop gained G/A;T snv 1.2E-05; 1.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs1554958045
rs1554958045
3 1.000 0.080 11 2445213 stop gained G/T snv 0.700 1.000 1 2017 2017
dbSNP: rs201845656
rs201845656
1 15 78111266 stop gained G/A snv 6.0E-05 4.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs2075252
rs2075252
5 0.925 0.160 2 169154475 stop gained T/A;C snv 0.76 0.010 1.000 1 2008 2008
dbSNP: rs387907015
rs387907015
2 1.000 0.120 3 121993614 stop gained C/A snv 0.010 1.000 1 2011 2011
dbSNP: rs397516874
rs397516874
2 1.000 0.120 13 20189212 stop gained G/A snv 8.4E-05 0.710 1.000 1 2017 2017
dbSNP: rs577509855
rs577509855
1 13 20223387 stop gained G/A snv 2.0E-05 0.010 1.000 1 2018 2018
dbSNP: rs778720579
rs778720579
1 15 78109499 stop gained G/A snv 2.4E-05 7.7E-05 0.010 1.000 1 2018 2018
dbSNP: rs786204585
rs786204585
6 0.925 0.160 15 72344139 stop gained G/A snv 7.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs80356590
rs80356590
2 1.000 0.120 2 26479356 stop gained G/A;T snv 3.6E-05; 2.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs929413725
rs929413725
2 1.000 19 53884181 stop gained C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs104894398
rs104894398
10 0.776 0.280 13 20189443 stop gained C/A;T snv 1.3E-04; 4.0E-06 0.700 0
dbSNP: rs1057516342
rs1057516342
3 0.925 0.200 10 53995732 stop gained G/A;C snv 8.0E-06 0.700 0
dbSNP: rs1057517303
rs1057517303
3 0.925 0.160 7 107710192 stop gained T/A;C snv 0.700 0